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Items: 1 to 20 of 111

1.

A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome.

Albrecht C, McVey JH, Elliott JI, Sardini A, Kasza I, Mumford AD, Naoumova RP, Tuddenham EG, Szabo K, Higgins CF.

Blood. 2005 Jul 15;106(2):542-9. Epub 2005 Mar 24.

2.

Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency.

Albrecht C, Baynes K, Sardini A, Schepelmann S, Eden ER, Davies SW, Higgins CF, Feher MD, Owen JS, Soutar AK.

Biochim Biophys Acta. 2004 May 24;1689(1):47-57.

3.

Endocytosis is enhanced in Tangier fibroblasts: possible role of ATP-binding cassette protein A1 in endosomal vesicular transport.

Zha X, Genest J Jr, McPherson R.

J Biol Chem. 2001 Oct 19;276(42):39476-83. Epub 2001 Aug 14.

4.

ATP-binding cassette transporter A1 contains a novel C-terminal VFVNFA motif that is required for its cholesterol efflux and ApoA-I binding activities.

Fitzgerald ML, Okuhira K, Short GF 3rd, Manning JJ, Bell SA, Freeman MW.

J Biol Chem. 2004 Nov 12;279(46):48477-85. Epub 2004 Sep 3.

5.

A novel missense mutation of ABCA1 in transmembrane alpha-helix in a Japanese patient with Tangier disease.

Maekawa M, Kikuchi J, Kotani K, Nagao K, Odgerel T, Ueda K, Kawano M, Furukawa Y, Sakurabayashi I.

Atherosclerosis. 2009 Sep;206(1):216-22. doi: 10.1016/j.atherosclerosis.2009.02.018. Epub 2009 Feb 25.

PMID:
19344898
6.

Transbilayer phospholipid movements in ABCA1-deficient cells.

Williamson P, Halleck MS, Malowitz J, Ng S, Fan X, Krahling S, Remaley AT, Schlegel RA.

PLoS One. 2007 Aug 15;2(8):e729.

7.

Purification of ATP-binding cassette transporter A1 and associated binding proteins reveals the importance of beta1-syntrophin in cholesterol efflux.

Okuhira K, Fitzgerald ML, Sarracino DA, Manning JJ, Bell SA, Goss JL, Freeman MW.

J Biol Chem. 2005 Nov 25;280(47):39653-64. Epub 2005 Sep 28.

8.

Involvement of protein kinase D in phosphorylation and increase of DNA binding of activator protein 2 alpha to downregulate ATP-binding cassette transporter A1.

Iwamoto N, Abe-Dohmae S, Lu R, Yokoyama S.

Arterioscler Thromb Vasc Biol. 2008 Dec;28(12):2282-7. doi: 10.1161/ATVBAHA.108.174714. Epub 2008 Oct 9.

9.

Molecular defects in the ABCA1 pathway affect platelet function.

Schmitz G, Schambeck CM.

Pathophysiol Haemost Thromb. 2006;35(1-2):166-74. Review.

PMID:
16855366
10.

Sodium taurocholate-dependent lipid efflux by ABCA1: effects of W590S mutation on lipid translocation and apolipoprotein A-I dissociation.

Nagao K, Zhao Y, Takahashi K, Kimura Y, Ueda K.

J Lipid Res. 2009 Jun;50(6):1165-72. doi: 10.1194/jlr.M800597-JLR200. Epub 2009 Feb 8.

11.

Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

Quazi F, Molday RS.

J Biol Chem. 2013 Nov 29;288(48):34414-26. doi: 10.1074/jbc.M113.508812. Epub 2013 Oct 4.

12.

Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease).

Nofer JR, Herminghaus G, Brodde M, Morgenstern E, Rust S, Engel T, Seedorf U, Assmann G, Bluethmann H, Kehrel BE.

J Biol Chem. 2004 Aug 6;279(32):34032-7. Epub 2004 May 25.

13.

Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjögren's Syndrome.

Tanaka AR, Ikeda Y, Abe-Dohmae S, Arakawa R, Sadanami K, Kidera A, Nakagawa S, Nagase T, Aoki R, Kioka N, Amachi T, Yokoyama S, Ueda K.

Biochem Biophys Res Commun. 2001 May 25;283(5):1019-25.

PMID:
11355874
14.

The mammalian ABC transporter ABCA1 induces lipid-dependent drug sensitivity in yeast.

Bocer T, Zarubica A, Roussel A, Flis K, Trombik T, Goffeau A, Ulaszewski S, Chimini G.

Biochim Biophys Acta. 2012 Mar;1821(3):373-80. doi: 10.1016/j.bbalip.2011.07.005. Epub 2011 Jul 20.

PMID:
21787882
15.

Phosphorylation by protein kinase CK2 modulates the activity of the ATP binding cassette A1 transporter.

Roosbeek S, Peelman F, Verhee A, Labeur C, Caster H, Lensink MF, Cirulli C, Grooten J, Cochet C, Vandekerckhove J, Amoresano A, Chimini G, Tavernier J, Rosseneu M.

J Biol Chem. 2004 Sep 3;279(36):37779-88. Epub 2004 Jun 24.

16.

Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C.

Cameron J, Ranheim T, Halvorsen B, Kulseth MA, Leren TP, Berge KE.

Atherosclerosis. 2010 Mar;209(1):163-6. doi: 10.1016/j.atherosclerosis.2009.08.039. Epub 2009 Aug 29.

PMID:
19765707
17.

Group X secretory phospholipase A2 negatively regulates ABCA1 and ABCG1 expression and cholesterol efflux in macrophages.

Shridas P, Bailey WM, Gizard F, Oslund RC, Gelb MH, Bruemmer D, Webb NR.

Arterioscler Thromb Vasc Biol. 2010 Oct;30(10):2014-21. doi: 10.1161/ATVBAHA.110.210237.

18.

Evaluation of the role of phosphatidylserine translocase activity in ABCA1-mediated lipid efflux.

Smith JD, Waelde C, Horwitz A, Zheng P.

J Biol Chem. 2002 May 17;277(20):17797-803. Epub 2002 Mar 13.

19.

Screening for functional sequence variations and mutations in ABCA1.

Probst MC, Thumann H, Aslanidis C, Langmann T, Buechler C, Patsch W, Baralle FE, Dallinga-Thie GM, Geisel J, Keller C, Menys VC, Schmitz G.

Atherosclerosis. 2004 Aug;175(2):269-79.

PMID:
15262183
20.

ZNF202 is inversely regulated with its target genes ABCA1 and apoE during macrophage differentiation and foam cell formation.

Langmann T, Schumacher C, Morham SG, Honer C, Heimerl S, Moehle C, Schmitz G.

J Lipid Res. 2003 May;44(5):968-77. Epub 2003 Mar 1.

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